ArticleScience advances2020
Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders.
Article in Science advances, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 69 citations in OpenAlex.
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- Augmenting transcriptome annotations through the lens of splicing evolution.Genome research · 2026Article
- Data-driven RNA phenotyping captures genetically regulated dimensions of the transcriptome.bioRxiv : the preprint server for biology · 2026Article
- A causal coding variant regulating alternative splicing ofScience advances · 2026Article
- Long-read sequencing transcriptome quantification with lr-kallisto.PLoS computational biology · 2025Article
- Integrating Iso-seq and RNA-seq data for the reannotation of the killifish telencephalon transcriptome.Scientific data · 2025Article
- Predicting Protein Function in the AI and Big Data Era.Biochemistry · 2025Review
- Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing.Nature genetics · 2025Article
- Splicing accuracy varies across human introns, tissues, age and disease.Nature communications · 2025Article
- Human introns contain conserved tissue-specific cryptic poison exons.NAR genomics and bioinformatics · 2024Article
- A novel human protein-coding locus identified using a targeted RNA enrichment technique.BMC biology · 2024Article
- Characterization of alternative splicing during mammalian brain development reveals the extent of isoform diversity and potential effects on protein structural changes.Biology open · 2024Article
- The annotation ofScience advances · 2024Article
- Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain.Science (New York, N.Y.) · 2024Article
- Article
- Meta-Research: understudied genes are lost in a leaky pipeline between genome-wide assays and reporting of results.bioRxiv : the preprint server for biology · 2024Article
- Long-read RNA-seq atlas of novel microglia isoforms elucidates disease-associated genetic regulation of splicing.medRxiv : the preprint server for health sciences · 2023Article
- Prioritizing genes associated with brain disorders by leveraging enhancer-promoter interactions in diverse neural cells and tissues.Genome medicine · 2023Article
- CeGAL: Redefining a Widespread Fungal-Specific Transcription Factor Family Using an In Silico Error-Tracking Approach.Journal of fungi (Basel, Switzerland) · 2023Article
- Cross-ancestry, cell-type-informed atlas of gene, isoform, and splicing regulation in the developing human brain.medRxiv : the preprint server for health sciences · 2023Article
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 6 countries.
Funding
Abstract
Growing evidence suggests that human gene annotation remains incomplete; however, it is unclear how this affects different tissues and our understanding of different disorders. Here, we detect previously unannotated transcription from Genotype-Tissue Expression RNA sequencing data across 41 human tissues. We connect this unannotated transcription to known genes, confirming that human gene annotation remains incomplete, even among well-studied genes including 63% of the Online Mendelian Inheritance in Man-morbid catalog and 317 neurodegeneration-associated genes. We find the greatest abundance of unannotated transcription in brain and genes highly expressed in brain are more likely to be reannotated. We explore examples of reannotated disease genes, such as
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.